Rare Disease Library

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

Alpha-mannosidosis

Lysosomal alpha-D-mannosidase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Crigler-Najjar syndrome

Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency

Crigler-Najjar syndrome type 1

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Fumaric aciduria

Fumarase deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Heme oxygenase-1 deficiency

HO-1 deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Qualitative or quantitative defects of protein O-mannosyltransferase 1

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Transaldolase deficiency

TALDO deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia